Early Detection of Cancer in High-risk Patients Through Cell-free DNA 1
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 1,416
- 试验地点
- 11
- 主要终点
- Detection of early stage cancer in HCS patients using cfDNA.
研究概览
简要总结
The goal of this study is to develop an effective, sensitive blood test that can detect early tumours in patients with known or suspected hereditary cancer syndromes (HCS). If this new blood test is accurate, it could be used to screen patients for cancer and allow for earlier cancer detection. The study will also use questionnaires and interviews to understand how patients feel about incorporating these tests into routine medical care, and the perceptions of the medical value of test results.
详细描述
The objective of this protocol is to develop a method to detect early signs of cancer in 'previvors' (people with HCS that do not yet have a cancer diagnosis). This will enable prediction of cancer onset so that patients and their doctors can make decisions to treat or prevent the cancers. HCS patients will be recruited from across Canada to provide blood samples before and after cancer diagnosis. In parallel, there will be development of a circulating tumour DNA (ctDNA) -based test to detect early stage cancer and evaluation on the cost-effectiveness and feasibility of integrating such screening protocols into routine clinical care. In concert, consultation with patients and health care providers will occur to create recommendations for use within clinical care.
CHARM1 leads into its follow-up study, CHARM2.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individual with any known or suspected hereditary cancer predisposition (i.e. individuals with an identified pathogenic or likely pathogenic variant in a cancer predisposition gene and/or a family history of cancer without an identified gene mutation) at any stage in their cancer journey (ie: cancer survivor, unaffected with cancer, current cancer patient).
- •Individual must be greater than 18 years of age
- •Individual must speak English or French to participate in the qualitative interview and/or survey
排除标准
- •1. Individuals that do not meet the outlined inclusion criteria.
研究组 & 干预措施
CHARM
Patients identified with hereditary breast and ovarian cancer syndrome (germline BRCA1 or BRCA2 carrier) or Lynch syndrome (germline variant in EPCAM, MLH1, MSH2, MSH6, or PMS2).
干预措施: Next generation sequencing (NGS) (Genetic)
结局指标
主要结局
Detection of early stage cancer in HCS patients using cfDNA.
时间窗: up to 4 years
Detect concentration of cfDNA circulating in the blood by shallow whole-genome sequencing, targeted panel analysis, and cfMeDIP.
Collection of biospecimens from 1500 HSC carriers.
时间窗: up to 4 years
Facilitate and streamline the collection, banking, and annotation of plasma samples and tumour tissue (if applicable) across Canada.
Collection of clinical data from 1500 HSC carriers.
时间窗: up to 4 years
Extract clinical data for all study participants from electronic medical records. Data collection will include family history and medical history.
Evaluation of cfDNA test implementation through cost-effectiveness analysis of cfDNA versus standard of care.
时间窗: up to 4 years
Conduct economic modelling using the economic evaluation guidelines from the Canadian Agency for Drugs and Technologies in Health.
Evaluation of the clinical utility of a cfDNA test for HSC patients.
时间窗: up to 4 years
Conduct qualitative interviews with healthcare providers and patients.
Evaluation of the optimal implementation of cfDNA in clinical practice.
时间窗: up to 4 years
Conduct a discrete choice experiment survey with HCS patient and providers.
次要结局
未报告次要终点